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Ehlers-Danlos Syndrome Online Support Group

New and complicated

I have been diagnosed with elastic skin disorder by an out of state specialist. It was missed decades though I’ve mild marfanoid proportions and stretchy skin. My related signs and disorders include abnormally baby soft skin since childhood till mid aged, teen onset POTS or dysautonomia, hyper mobility all my life till mid aged unless use aminos like arginine for third space pooling, strea since teen yet skinny, and many disorders eg lupus, celiac sprue and crohn’s, recent onset keratoconus, cataracts, fuchs corneal dystrophy, ocular hypertension, sjogren’s, emphysema never smoked, hypopituitary, renal tubular acidosis, mitochondrial myopathy, several immune deficiencies, heart and lung disorders, numerous bleed and clot disorders since youth plus strokes, craniofacial skull suture abnormality, limb girdle back, seizures apnea and arrythmias in sleep, child onset dystonia & dopamine deficiency symptoms, neuropathy test of segmental demyelination, precancers several sites, autism genetic test to several genes to autism etc etc etc. I have impossible time finding anyone who gets a word of this in my life or among medical centers. I may need move but i have false histories in varied places that interfere including a foreign woman mixed up in my computer records in several different places. It’s scary to be this alone and the specialist i saw did not want my case. I look healthy when i am sick, even if it is deemed life threatening by the docs, i look too good with luminous skin so my care has been terrible.

Hey Aloha,
Dealing with multiple ailments can be a massive issue. Some medicos may specialise in a specific branch of medicine and the second you mention something outside of their sphere and You get “Ohh I can’t help…”
My suggestion would be that you find a medical advocate, someone who can talk to all of the specialists at their level. Someone who can take a wholistic approach in reviewing your situation. A cardiologist maybe able to review your heart condition but would have limited knowledge about demyelination. It sounds to me like you need someone to coordinate the whole process and my suggestion would be to start the whole process afresh to get a clearer, more concise diagnosis. And a medical advocate would be the appropriate person to do so.
Here are a couple of links that may assist you in finding such an advocate

https://www.opa.ca.gov/Pages/default.aspx

https://cahealthadvocates.org/

Hope it helps
Merl from the Moderator Support Team

Thank you so much for that information. I had heard of that before but when I called some, they said they don’t accept mitochondrial myopathy or inborn error of metabolism patients and the one who did they referred me to in middle united stated was temporarily out of business at that time and then I lost the phone numbers. Nurses who ran advocate companies that charge a hundred fifty dollars an hour told me they aren’t trained to handle inborn error of metabolism. There was one not run by a nurse willing to handle it but for the same cost maybe I need the one with training if they are currently in business. I learned later that elastic skin disorder ties my many conditions together from childhood lupus with low platelets to eyes GI and other immune disorders. I had four different mutations for autism and think it’s more subtle diffuse why I am misunderstood and don’t connect with people. I tried to get testing for autism but gene proof doesn’t open the door, only a diagnosis does, not positive tests. I’m also sent away by medical specialists as well as psych practitioners over rare genetic versus not debates among doctors so I can’t get as little as an assessment of my personality traits by a psych practitioner, that’s too in depth for them all with my Medicare Medicaid.

Do only certain ehlers danlos doctors (genetic or not) deal with peripheral disorders like eye immune GI though not directly but looking at the whole for how tied in? My problem is my list of disorders is many and rare and even eye doctor offices freak out with me, or their staff did. Instead of support for my fears or information I need, they acted suspicious of all kinds of things that aren’t true. UC system medical centers accused I had too many genetic unrelated disorders but said I just have marfanoid proportons not marfanoid ehlers danlos. UC system Drs said I can’t possibly have elastic skin disease but the genetic Dr said I do have not only elastic skin but other signs of elastic skin. UC system thought my third space pooling edema was inflicted but it’s not and responded some to the four amino acids used for elastic skin. I was threatened after my apt with the genetic Dr who I informed was viewed as an enemy for supporting me that I’ve something real wrong and the genetic Dr dropped me. There was also misunderstanding over my history that is severe and the genetic Dr terminated me cause assumed that I lied though I didn’t. There’s no consensus of opinion in my records and docs warred with each other and me since my teens with huge debates about each test or diagnosis.

It looks like I’ll need that advocate and I’ll have to call around because of the way they refused inborn errors disorders. I had worse swelling that other inborn error patients and think years of not being diagnosed tested treated plus third space pooling is why but I was treated like a drug or alcohol addict because of my swelling. I never used drugs and don’t take controlled rx substance either. I didn’t drink alcohol till in my forties and that mild for blood in urine UTI or dopamine deficiency I’ve had symptoms of since before age 5. To me doctors seem like addicts or drunks to handle this so badly even after I learned that they tie together. Doctors don’t know that ehlers danlos can be tied to these disorders such as eye or immune.

Any additional information would be appreciated. I’m guessing most patients aren’t as wide spread diffuse with peripheral disorders like mine or are some?

Thanks,

Linda aka aloha

I can completely understand why you are receiving conflicting opinions as many of us with rare conditions have had a similar response. For many rare conditions a diagnosis is not direct but rather a diagnosis by elimination ie 'If it’s not ‘x’ and it’s not ‘y’, then it must be ‘z’. Now for some individuals this may be OK but there can be a huge conflict when there is a diagnosis of ‘x’ ‘y’ and ‘z’. Having all 3 diagnosis from 3 different practitioners can cause doubt from all 3 dr’s on another’s hypothesis of a disorder. I would suggest NOT providing too much information regarding ALL of the diagnosis in the first instance, but as I suggested above, starting the whole process afresh. Personally, I would not be giving the dr’s ammunition to reject assisting you out-of-hand. Give the advocate the basic symptoms and allow them to fill in the blanks.

Some dr’s do not have a great holistic view, so when you spell out the whole range it can be a little overwhelming. Some are less than willing to admit that they do not know it all and do not have all of the answers. In my own situation, which is not EDS related, the symptoms did not align easily with a single diagnosis and this caused a conflict that their medical textbooks could not explain, so the easiest answer was that it was all a psychological issue. That was until there was a MAJOR issue which needed full and thorough investigation and only then (after 20 yrs of being told I was crazy in da coconut, a hypochondriac, a drug addict, an alcoholic etc…) did they actually give me a true diagnosis which ended up requiring major neurosurgery.

So sure most patients possibly do not have such a wide spread diffuse with peripheral disorders, but some do and having someone to advocate on your behalf to help navigate the medical jungle is a must. As I say for years I was put in the ‘Too hard basket’ which only served to make me a true basket case. “There’s nothing wrong, it’s all in your head…” I was told. Well, that was until the actually found that it was all in my head, physically and not just psychologically, and by that point it had gotten to a life threatening situation that needed surgical intervention. Nasty.
GET YOURSELF AN ADVOCATE, NOW.

Merl from the Moderator Support Team

Thank you for sharing. I’m calling around but I’m told it will cost at least $450 for three hours to review my records before any plans for advocacy can occur. It appears the rate is $150 hr standardly.

I’m glad you survived your doctor care mistakes. The system isn’t my cup of tea. I’ve had doctors accuse each other of not being a doctor because they made a diagnosis the other disagreed with.

I gather that it is just too high risk for me to not have a patient advocate and sooner than later before more bad goes down. My problem is that though I was treated for life threatening lupus at age 11, others didn’t know about it. My church came down on me for not working and instead of getting facts, they had me put in psych ward as if my lupus history and care was a lie or delusion. I later had a lupus doctor gather all my records in my youth and he said that psych ward committed gross malpractice or negligence but I wasn’t able to sue and I thought Drs would believe me but they didn’t. Some doctors saw I’d childhood lupus treatment but churches assumed it was a lie or delusion then wrongfully reached out to others as if they were treating me for a psych disorder as if for my own good by spreading lies then progressing to obstruct my medical care as if they know me, my history or myself. Problem is not only was my health psychologized by churches who didn’t get to know me nor my history or medical records I would have shown them if willing to look, they spread lies as if true and friends of friends influenced staff at medical centers and I never got case mgt to just verify a fee key facts is all I asked. I never had anyone talk to the doctor who reviewed my records in my youth and I’m treated like a bad person if I try to get someone to contact that doctor or to just order records from social security and find out how my diagnoses have changed from my first wrong diagnosis. With all the mistakes, its both upsetting and funny to know I’d marfanoid proportions though not marfan that every doctor missed till I realized it and saw a right specialist to get even that confirmation. With that said, it just feels like a losing battle and Drs said they just don’t want me so nothing more can be done.

I’m still looking into advocacy yet but a $450 cost before services rendered is a huge toll to me but even if I saw Dr Fran Kendall, I fear there’s bad info that needs investigation or she may drW hurtful conclusions too. I was the best behaved in my school but when I became sick, I was treated like I had gone bad and given hard adge treatment before any other approach was ever tried yet I told the truth and sought what was right. My recent BP was 188/100 and fluctuates low to high but I was told that I don’t even need a primary care visit over my BP though I have marked tortuosity on my neck CT recently. Doctors treated me like I had a different problem than I do then blame why I seek help.

Thank you,

Linda Pappas

Hey Linda,
Not good to hear you’ve had a similar experience with dr’s. I wouldn’t wish it on anybody as that (wrongful) history follows you everywhere. My experiences within the church systems, of which there have been many, has been a massive negative and although I do know and understand that it can give many a comfort, I am not one of them. I now steer well clear of religion of any sort.

Being that I’m in Australia, we have universal health care known here as Medicare (I believe something similar to what ‘Obamacare’ was to eventually become) so investigations into health issues via an advocate have minimal costs here. But in saying that there must be some sort of benevolent trust available to assist in covering such medical costs. Some hospitals and medical practises have advocates on their teams here and it may be worth investigating what sorts of other services are available in your location.

I most certainly know and understand how our histories follow us and can impede obtaining an unbiased/true opinion. The medicos all refer back to historical reports and these often taint any following reports ‘Ohh you have a history of ‘x’, it that case it must be ‘x’ related…’ I was lucky enough to get married and took my wife’s surname in the process, so my documented history with this name only goes back so far. This halts their investigations from going too far back. So they only know what I want to disclose.

Merl from the Moderator Support Team